World Journal of
Pharmaceutical and Life Sciences

HEREDITARY SPHEROCYTOSIS: A CASE STUDY

*H. Omar, Y. Moumin, K. Ouafi, A. Belmekki and J. El Bakkouri

ABSTRACT

Hereditary spherocytosis (HS) is an autosomal dominant genetic hemolytic disease, characterized by reduced deformability of red blood cells, leading to their premature destruction. Clinical manifestations vary according to the severity of the disease and the type of genetic mutation, and commonly include hemolytic anemia, splenomegaly, and elevated indirect hyperbilirubinemia. Gallstones are also frequently observed in affected patients. We report the case of a 19-year-old female patient with moderate regenerative anemia, splenomegaly, and a family history of hemolytic anemia. Complementary tests revealed gallstones, spherocytes on the blood smear, elevated indirect hyperbilirubinemia, and marked reticulocytosis. The diagnosis was confirmed by increased red blood cell fragility and the exclusion of other causes of hemolytic anemia. The standard treatment for moderate and severe forms remains splenectomy, although management is often symptomatic. This case highlights the importance of early diagnosis and personalized management to prevent complications associated with hereditary spherocytosis.

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